Canonical Allele Identifier: CA4727155
Community Standard Title: NM_000037.4(ANK1):c.5485C>T (p.Arg1829Cys)
Gene: ANK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.41661935G>A , CM000670.2:g.41661935G>A GRCh38
NC_000008.10:g.41519453G>A , CM000670.1:g.41519453G>A GRCh37
NC_000008.9:g.41638610G>A NCBI36
NG_012820.1:g.239828C>T
NG_012820.2:g.239828C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000037.4:c.5485C>T MANE Select NP_000028.3:p.Arg1829Cys
ENST00000289734.13:c.5485C>T MANE Select ENSP00000289734.8:p.Arg1829Cys
NM_000037.3:c.5485C>T NP_000028.3:p.Arg1829Cys
NM_001142445.1:c.310C>T NP_001135917.1:p.Arg104Cys
NM_001142445.2:c.310C>T NP_001135917.1:p.Arg104Cys
NM_001142446.1:c.5608C>T NP_001135918.1:p.Arg1870Cys
NM_001142446.2:c.5608C>T NP_001135918.1:p.Arg1870Cys
NM_020475.2:c.5485C>T NP_065208.2:p.Arg1829Cys
NM_020475.3:c.5485C>T NP_065208.2:p.Arg1829Cys
NM_020476.2:c.5485C>T NP_065209.2:p.Arg1829Cys
NM_020476.3:c.5485C>T NP_065209.2:p.Arg1829Cys
NM_020477.2:c.4999C>T NP_065210.2:p.Arg1667Cys
NM_020477.3:c.4999C>T NP_065210.2:p.Arg1667Cys
NM_020478.4:c.310C>T NP_065211.2:p.Arg104Cys
NM_020478.5:c.310C>T NP_065211.2:p.Arg104Cys
NM_020480.4:c.303+1724C>T NP_065213.2:n.303+1724C>T
NM_020480.5:c.303+1724C>T NP_065213.2:n.303+1724C>T
ENST00000265709.12:c.5608C>T ENSP00000265709.8:p.Arg1870Cys
ENST00000265709.13:c.5608C>T ENSP00000265709.8:p.Arg1870Cys
ENST00000265709.14:c.5608C>T ENSP00000265709.8:p.Arg1870Cys
ENST00000289734.11:c.5485C>T ENSP00000289734.7:p.Arg1829Cys
ENST00000314214.12:c.310C>T ENSP00000319123.8:p.Arg104Cys
ENST00000335651.6:c.304-371C>T ENSP00000335031.6:n.304-371C>T
ENST00000347528.8:c.5485C>T ENSP00000339620.4:p.Arg1829Cys
ENST00000348036.8:c.303+1724C>T ENSP00000297744.5:n.303+1724C>T
ENST00000518715.1:n.494C>T
ENST00000518715.2:n.494C>T
ENST00000520299.5:c.2963C>T
ENST00000522231.5:c.310C>T ENSP00000428750.1:p.Arg104Cys
ENST00000522543.5:c.310C>T ENSP00000430368.1:p.Arg104Cys
ENST00000522543.6:c.310C>T ENSP00000430368.1:p.Arg104Cys
ENST00000524227.5:n.2879C>T
ENST00000645531.1:c.1499C>T
ENST00000705521.1:c.5704C>T ENSP00000516136.1:p.Arg1902Cys
ENST00000705522.1:c.5437C>T ENSP00000516137.1:p.Arg1813Cys
XM_005273476.3:c.5608C>T XP_005273533.1:p.Arg1870Cys
XM_005273476.4:c.5608C>T XP_005273533.1:p.Arg1870Cys
XM_011544490.1:c.5749C>T XP_011542792.1:p.Arg1917Cys
XM_011544490.3:c.5749C>T XP_011542792.1:p.Arg1917Cys
XM_011544491.1:c.5749C>T XP_011542793.1:p.Arg1917Cys
XM_011544491.3:c.5749C>T XP_011542793.1:p.Arg1917Cys
XM_011544492.1:c.5650C>T XP_011542794.1:p.Arg1884Cys
XM_011544493.1:c.5749C>T XP_011542795.1:p.Arg1917Cys
XM_011544494.1:c.5704C>T XP_011542796.1:p.Arg1902Cys
XM_011544494.3:c.5704C>T XP_011542796.1:p.Arg1902Cys
XM_011544495.1:c.5704C>T XP_011542797.1:p.Arg1902Cys
XM_011544495.3:c.5704C>T XP_011542797.1:p.Arg1902Cys
XM_011544496.1:c.5749C>T XP_011542798.1:p.Arg1917Cys
XM_011544496.3:c.5749C>T XP_011542798.1:p.Arg1917Cys
XM_011544497.1:c.5584C>T XP_011542799.1:p.Arg1862Cys
XM_011544498.1:c.5566C>T XP_011542800.1:p.Arg1856Cys
XM_011544499.1:c.5742+1724C>T XP_011542801.1:n.5742+1724C>T
XM_011544500.1:c.5584C>T XP_011542802.1:p.Arg1862Cys
XM_011544500.2:c.5584C>T XP_011542802.1:p.Arg1862Cys
XM_011544501.1:c.5584C>T XP_011542803.1:p.Arg1862Cys
XM_011544501.2:c.5584C>T XP_011542803.1:p.Arg1862Cys
XM_011544502.1:c.5584C>T XP_011542804.1:p.Arg1862Cys
XM_011544502.2:c.5584C>T XP_011542804.1:p.Arg1862Cys
XM_011544503.1:c.5218C>T XP_011542805.1:p.Arg1740Cys
XM_011544503.3:c.5218C>T XP_011542805.1:p.Arg1740Cys
XM_011544504.1:c.5098C>T XP_011542806.1:p.Arg1700Cys
XM_011544504.2:c.5098C>T XP_011542806.1:p.Arg1700Cys
XM_011544505.1:c.5098C>T XP_011542807.1:p.Arg1700Cys
XM_011544505.2:c.5098C>T XP_011542807.1:p.Arg1700Cys
XM_017013319.2:c.5725C>T XP_016868808.1:p.Arg1909Cys
XM_017013320.2:c.5743-371C>T XP_016868809.1:n.5743-371C>T
XM_017013321.1:c.5662C>T XP_016868810.1:p.Arg1888Cys
XM_017013322.1:c.5653C>T XP_016868811.1:p.Arg1885Cys
XM_017013323.1:c.5650C>T XP_016868812.1:p.Arg1884Cys
XM_017013324.1:c.5608C>T XP_016868813.1:p.Arg1870Cys
XM_017013325.1:c.5566C>T XP_016868814.1:p.Arg1856Cys
XM_017013326.1:c.5521C>T XP_016868815.1:p.Arg1841Cys
XM_017013327.2:c.5263C>T XP_016868816.1:p.Arg1755Cys
XM_017013328.2:c.5218C>T XP_016868817.1:p.Arg1740Cys
XM_017013329.1:c.5122C>T XP_016868818.1:p.Arg1708Cys
XM_024447128.1:c.5554C>T XP_024302896.1:p.Arg1852Cys
XR_949389.1:n.5340C>T